Key Points Question What are the long-term outcomes for patients with late-onset Pompe disease (LOPD) continuing avalglucosidase alfa treatment or switching from alglucosidase alfa? Findings In this phase 3 randomized clinical trial extension including 86 patients, from baseline to week 97, the least squares mean (SE) change in forced vital capacity percent predicted increased by 2.65 (1.05) while continuing avalglucosidase alfa and by 0.36 (1.12) after switching from alglucosidase alfa. Frequency of potentially treatment-related adverse events was similar between treatment arms. Meaning In this trial, avalglucosidase alfa treatment, either continued or after switching from alglucosidase alfa, maintained respiratory function and functional endurance in patients with LOPD.
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Priya S Kishnani, Jordi Diaz-Manera, Antonio Toscano et al.. Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks. JAMA Neurology. (2023). https://doi.org/10.1001/jamaneurol.2023.0552 Priya S Kishnani, Jordi Diaz-Manera, Antonio Toscano, Paula R Clemens, Shafeeq Ladha, Kenneth I Berger, Hani Kushlaf, Volker Straub, Gerson Carvalho, Tahseen Mozaffar, Mark Roberts, Shahram Attarian, Yin-Hsiu Chien, Young-Chul Choi, John W Day, Sevim Erdem-Ozdamar, Sergey Illarioshkin, Ozlem Goker-Alpan, Anna Kostera-Pruszczyk, Ans T van der Ploeg, Kristina An Haack, Olivier Huynh-Ba, Swathi Tammireddy, Nathan Thibault, Tianyue Zhou, Mazen M Dimachkie, Benedikt Schoser
1Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 2Newcastle University John Walton Muscular Dystrophy Research Centre, Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom 3Department of Clinical and Experimental Medicine, Reference Center for Rare Neuromuscular Disorders, University of Messina, Messina, Italy 4Department of Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania 5Department of Veterans Affairs Medical Center, Pittsburgh, Pennsylvania 6Gregory W. Fulton ALS and Neuromuscular Center, Barrow Neurological Institute, Phoenix, Arizona 7Division of Pulmonary, Critical Care and Sleep Medicine, NYU Grossman School of Medicine, New York, New York 8André Cournand Pulmonary Physiology Laboratory, Bellevue Hospital, New York, New York 9Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, Ohio 10Department of Pathology and Laboratory Medicine, University of Cincinnati, Cincinnati, Ohio 11Instituto Chronos de Apoio à Pesquisa, Brasília, Brazil 12Department of Neurology, University of California, Irvine, Orange 13Salford Royal NHS Foundation Trust, Salford, United Kingdom 14Referral Centre for Neuromuscular Diseases and ALS, European Reference Network Neuromuscular Diseases, Hôpital La Timone, Marseille, France 15Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan 16Gangnam Severance Hospital, Yonsei University, College of Medicine, Seoul, Korea 17Department of Neurology, Stanford University, Stanford, California 18Department of Pediatrics, Stanford University, Stanford, California 19Department of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey 20Research Center of Neurology, Moscow, Russia 21Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, Virginia 22Department of Neurology, Medical University of Warsaw, Warsaw, Poland 23Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, the Netherlands 24Sanofi, Chilly-Mazarin, France 25Sanofi, Cambridge, Massachusetts 26University of Kansas Medical Center, Department of Neurology, Kansas City 27Friedrich-Baur-Institute, Department of Neurology, LMU Klinikum, München, München, Germany 